MRM3 - mitochondrial rRNA methyltransferase 3 Gene

Homo sapiens

Also known as RMTL1; RNMTL1

Gene ID: 55178 | Gene type: protein coding

About MRM3

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:782,353-792,509 (from NCBI)

This gene has 4 transcripts (splice variants), 132 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 12.8), bone marrow (RPKM 6.8) and 25 other tissues.

Summary

Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

MRM3 Products(2)

mRNA	Protein	Name
NM_001317947.2	NP_001304876.1	rRNA methyltransferase 3, mitochondrial isoform 2
NM_018146.4	NP_060616.1	rRNA methyltransferase 3, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables rRNA (guanosine-2'-O-)-methyltransferase activity	EXP EXP: Inferred from Experiment	24036117	GOA
enables rRNA (guanosine-2'-O-)-methyltransferase activity	IMP IMP: Inferred from mutant phenotype	35177605	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MRM3 Protein Structure

SpoU_sub_bind

SpoU_methylase

0
100
200
300
420 a.a.

Protein Preferred Names

Protein Names

rRNA methyltransferase 3, mitochondrial

16S rRNA (guanosine(1370)-2'-O)-methyltransferase

MRM3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MRM3	Q9HC36	FHL3	Homo sapiens	Q13643	Y2H Array	32296183
Intra	MRM3	Q9HC36	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	32296183
Intra	MRM3	Q9HC36	AIG1	Homo sapiens	Q9NVV5-2	Validated Y2H	32296183
Intra	MRM3	Q9HC36	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency

MCC1D	Mccd Type 1
Mcc1 Deficiency	Methylcrotonylglycinuria Type I
3-Methylcrotonylglycinuria I	3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency
3-Methylcrotonylglycinuria Type I	Mcgi
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Raynaud-Claes Syndrome

Mrx49	MRXSRC
Mental Retardation, X-Linked 49	Mrx15
Clcn4-Related X-Linked Intellectual Disability Syndrome	Mental Retardation, X-Linked 15
X-Linked Mental Retardation 15	X-Linked Mental Retardation 49
Mental Retardation, X-Linked-49

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08657	MRM3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MRM3	VGNC	VGNC:63583
Mus musculus	MRM3	MGD	MGI:1914640
Macaca mulatta	MRM3	VGNC	VGNC:104632
Rattus norvegicus	MRM3	RGD	RGD:1309077
Bos taurus	MRM3	VGNC	VGNC:31607
Canis familiaris	MRM3	VGNC	VGNC:43368

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